katanin p60 ATPase-containing subunit A-like 2 isoform 13 [Homo sapien - Protein

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Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. [Eur J Med Genet. 2015]
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.
Ropers HH, Wienker T. Eur J Med Genet. 2015 Dec; 58(12):715-8. Epub 2015 Oct 24.
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. [Proc Natl Acad Sci U S A. 2024]
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina ML, Desmet N, Dang HQ, Fields J, et al. Proc Natl Acad Sci U S A. 2024 Jul 2; 121(27):e2314702121. Epub 2024 Jun 25.
Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia. [Clin Genet. 2021]
Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.
Wei X, Liu W, Zhu X, Li Y, Zhang X, Chen J, Isachenko V, Sha Y, Lu Z. Clin Genet. 2021 Oct; 100(4):376-385. Epub 2021 Jun 11.

RefSeq mRNA
See reference mRNA sequence for the KATNAL2 gene (NM_001367621.1).
RefSeq protein isoforms
See 34 reference sequence protein isoforms for the KATNAL2 gene.

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Protein